Canonical Allele Identifier: CA4630498

Gene: BLK

Linked Data

• dbSNP Id: rs763898259
• ExAC: 8:11421459 ATGCCGCGCCCCGACACC / A
• gnomAD v2: 8-11421459-ATGCCGCGCCCCGACACC-A
• MyVariant Identifiers: chr8:g.11421460_11421476del (hg19) ; chr8:g.11563951_11563967del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563955_11563971del , CM000670.2:g.11563955_11563971del	GRCh38
NC_000008.10:g.11421464_11421480del , CM000670.1:g.11421464_11421480del	GRCh37
NC_000008.9:g.11458873_11458889del	NCBI36
NG_023543.1:g.74944_74960del
NG_023543.2:g.74944_74960del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1473_1489del
ENST00000696154.1:c.*683_*699del	ENSP00000512445.1:n.*683_*699del
ENST00000696155.1:n.249_265del
ENST00000259089.9:c.1365_1381del MANE Select	ENSP00000259089.4:p.Arg456AlafsTer?
ENST00000645242.1:c.1152_1168del	ENSP00000494690.1:p.Arg385AlafsTer?
ENST00000259089.8:c.1365_1381del	ENSP00000259089.4:p.Arg456AlafsTer?
ENST00000526097.1:n.1305_1321del
ENST00000529894.1:c.1152_1168del	ENSP00000433663.1:p.Arg385AlafsTer?
NM_001715.2:c.1365_1381del	NP_001706.2:p.Arg456AlafsTer?
XM_011543824.1:c.1443_1459del	XP_011542126.1:p.Arg482AlafsTer?
XM_011543825.1:c.1443_1459del	XP_011542127.1:p.Arg482AlafsTer?
XM_011543826.1:c.1443_1459del	XP_011542128.1:p.Arg482AlafsTer?
XM_011543827.1:c.1230_1246del	XP_011542129.1:p.Arg411AlafsTer?
NM_001330465.1:c.1152_1168del	NP_001317394.1:p.Arg385AlafsTer?
XM_011543825.3:c.1443_1459del	XP_011542127.1:p.Arg482AlafsTer?
NM_001715.3:c.1365_1381del MANE Select	NP_001706.2:p.Arg456AlafsTer?
NM_001330465.2:c.1152_1168del	NP_001317394.1:p.Arg385AlafsTer?